PP01.11 – 2618: Refractory epilepsy and NXF2 gene – Coincidence or causality?
| Autor: | C. Luis, M. Ezequiel |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Pathology
medicine.medical_specialty Septic shock medicine.medical_treatment Respiratory infection General Medicine Biology medicine.disease Bioinformatics Hypotonia Epilepsy Atrophy Pediatrics Perinatology and Child Health Gene duplication medicine Clinical significance Neurology (clinical) medicine.symptom Ketogenic diet |
| Zdroj: | European Journal of Paediatric Neurology. 19:S31-S32 |
| ISSN: | 1090-3798 |
| DOI: | 10.1016/s1090-3798(15)30101-x |
| Popis: | Introduction Patients with epilepsy whose seizures do not successfully respond to antiepileptic drug (AED) therapies are considered to have drug-resistant epilepsy. Failure to respond to 3 distinct AEDs, which occurs in 20–40% of patients with epilepsy, is clinically defined as intractable epilepsy. NXF2 gene is a highly preserved gene in evolution, involved in the mRNA trafficking in neuronal cells, especially in the mesial cells. The clinical significance of this gene is not fully known, but might be implicated in cerebral development. Objective To describe a case report of intractable epilepsy in a patient with NXF2 duplication. Case report Joana, age 3, previously healthy, family history positive for epilepsy. At the age of 2 she had her first seizure, characterized by loss of awareness and subsequent hypotonia associated with an upper respiratory infection. Her condition then evolved to frequent, monomorphic seizures that proved to be refractory to medical treatment. The MRI (3Tz) showed slight asymmetry of the mesial regions, with no mesial atrophy or focal dysplasia, and the video-EEG monitoring displayed right temporal lobe activity. She started ketogenic diet with partial response. At the age of 3 she was admitted to the intensive care unit (ICU) due to pneumonia that evolved rapidly to septic shock resulting in death in 48 hours. The metabolic work-up was normal, as was the karyotype and study of sister chromatids exchange. The comparative genomic hybridization (GCH) array showed an interstitial duplication of chromosome X, region Xq22.1 including the NXF2 gene. Conclusions Although rarely described, NFX2 gene could play a role in brain development, and thus play a role in developmental delay and epilepsy. More studies are needed to confirm this association. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect